Tuberous sclerosis: Clinical characteristics and their relationship to genotype/phenotype

Autor: Monteiro, T., Garrido, C., Pina, S., Chorão, R., Carrilho, I., Figueiroa, S., Santos, M., Temudo, T.

Publikováno v: In Anales de Pediatría (English Edition) November 2014 81(5):289-296

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Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

Autor: Darling, A. Tello, C. Martí, M.J. Garrido, C. Aguilera-Albesa, S. Tomás Vila, M. Gastón, I. Madruga, M. González Gutiérrez, L. Ramos Lizana, J. Pujol, M. Gavilán Iglesias, T. Tustin, K. Lin, J.P. Zorzi, G. Nardocci, N. Martorell, L. Lorenzo Sanz, G. Gutiérrez, F. García, P.J. Vela, L. Hernández Lahoz, C. Ortigoza Escobar, J.D. Martí Sánchez, L. Moreira, F. Coelho, M. Correia Guedes, L. Castro Caldas, A. Ferreira, J. Pires, P. Costa, C. Rego, P. Magalhães, M. Stamelou, M. Cuadras Pallejà, D. Rodríguez-Blazquez, C. Martínez-Martín, P. Lupo, V. Stefanis, L. Pons, R. Espinós, C. Temudo, T. Pérez Dueñas, B.

Background: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::b603b225812935ca48aade237e3afd95
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998203

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study

Autor: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, Mcalister, L, Mccabe, A, Mckie, M, Mcmahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10(1):65. BioMed Central

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd7081ec1efa0869586839008ff46d7
http://hdl.handle.net/11588/636258